Emerging and converging molecular mechanisms in dystonia

P Gonzalez-Latapi, N Marotta, NE Mencacci - Journal of Neural …, 2021 - Springer
Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Primary dystonia: molecules and mechanisms

LM Tanabe, CE Kim, N Alagem, WT Dauer - Nature Reviews Neurology, 2009 - nature.com
Primary dystonia is characterized by abnormal, involuntary twisting and turning movements
that reflect impaired motor system function. The dystonic brain seems normal, in that it …

Emerging common molecular pathways for primary dystonia

MS LeDoux, WT Dauer, TT Warner - Movement Disorders, 2013 - Wiley Online Library
The dystonias are a group of hyperkinetic movement disorders whose principal cause is
neuron dysfunction at 1 or more interconnected nodes of the motor system. The study of …

Molecular pathways in dystonia

DC Bragg, IA Armata, FC Nery, XO Breakefield… - Neurobiology of …, 2011 - Elsevier
The hereditary dystonias comprise a set of diseases defined by a common constellation of
motor deficits. These disorders are most likely associated with different molecular etiologies …

The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes

A Di Fonzo, A Albanese, HA Jinnah - Current opinion in …, 2022 - journals.lww.com
The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

Recent advances in the genetics of dystonia

J Xiao, SR Vemula, MS LeDoux - Current neurology and neuroscience …, 2014 - Springer
Dystonia, a common and genetically heterogeneous neurological disorder, was recently
defined as “a movement disorder characterized by sustained or intermittent muscle …

Inherited dystonias: clinical features and molecular pathways

CE Weisheit, SS Pappas, WT Dauer - Handbook of clinical neurology, 2018 - Elsevier
Recent decades have witnessed dramatic increases in understanding of the genetics of
dystonia–a movement disorder characterized by involuntary twisting and abnormal posture …

Dystonia genes and their biological pathways

HA Jinnah, YV Sun - Neurobiology of disease, 2019 - Elsevier
The dystonias are a group of disorders characterized by excessive contraction of muscles
leading to abnormal involuntary movements. The clinical manifestations are very …

[HTML][HTML] Inherited isolated dystonia: clinical genetics and gene function

W Dauer - Neurotherapeutics, 2014 - Elsevier
Isolated inherited dystonia—formerly referred to as primary dystonia—is characterized by
abnormal motor functioning of a grossly normal appearing brain. The disease manifests as …

Genetics of primary torsion dystonia

N Brüggemann, C Klein - Current neurology and neuroscience reports, 2010 - Springer
Advances in the genetics of dystonia have further elucidated the pathophysiology of this
clinically and etiologically heterogeneous group of movement disorders. Currently, 20 …